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QJM 2018 Dec 12. Epub 2018 Dec 12.

All India Institute Of Medical Sciences, Department of Neurology, Rishikesh, Uttarakhand, India.

Hawaii J Med Public Health 2018 Dec;77(12):319-324

John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI (NLB,JCK,AS).

Gelastic seizures (GS) are a rare form of epilepsy characterized by inappropriate, uncontrolled laughter. They are highly associated with abnormal cognitive development and behavioral problems in patients. Research has shown that GS can originate from hypothalamic hamartomas (HH), non- neoplastic masses consisting of gray matter with large and small neurons interspersed with glial nuclei. Read More

Retin Cases Brief Rep 2018 Nov 28. Epub 2018 Nov 28.

Department of Ophthalmology, Ministry of Education, Key Laboratory of Vision Loss and Restoration, Peking University Third Hospital, Beijing, China.

Purpose: Optic disk astrocytoma is a rare variant of congenital hamartoma, which is usually associated with tuberous sclerosis complex. Generally, it is stationary but in rare cases, it can show progressive growth and cause severe local complications.

Methods: Clinical-pathologic correlation. Read More

Ann Thorac Surg 2018 Dec 7. Epub 2018 Dec 7.

Department Pulmonary and Critical Care Medicine, Lankenau Medical Center. 100 Lancaster Avenue, Wynnewood, PA 19096. Electronic address:

A 49 year old female presented after a respiratory infection with a abnormal chest X-ray demonstrating a cystic calcified mass at the base of the right lung. Chest CT angiogram demonstrated the blood supply arose from the abdominal aorta. This Extralobar sequestration was surgically resected via Video assisted thoracoscopy without complication. Read More

J Am Acad Dermatol 2018 Dec 6. Epub 2018 Dec 6.

Chief and profesor for dermatology department; Place where work was done: Universidad Autonoma de Nuevo León, Facultad de Medicina, Hospital Universitario ''Dr. José E. González'' Servicio de Dermatología, Monterrey, NL, México. Electronic address:

J Vet Cardiol 2018 Dec 18;20(6):399-404. Epub 2018 Oct 18.

Department of Veterinary Biosciences, The Ohio State University, 1925 Coffey Road, Columbus, OH 43210, USA. Electronic address:

An 8-month-old Hanoverian gelding was presented with a history of cardiac murmurs that were not apparent as a foal nor reported at the time of castration. Major echocardiographic findings included mitral valvular thickening, functional stenosis, and mitral regurgitation of sufficient severity to cause diastolic and systolic cardiac murmurs, left-sided volume overload, and pulmonary hypertension. Due to the hemodynamic severity of the lesion and poor prognosis for future performance and longevity, euthanasia was elected. Read More

Clin Imaging 2018 Dec 2;54:37-39. Epub 2018 Dec 2.

Department of Radiology, Beth Israel Deaconess Medical Center, 330 Brookline Ave., Boston, MA 02215, USA.

Juvenile polyposis syndrome (JPS) may coexist with hereditary hemorrhagic telangiectasia (HHT) due to implication of the SMAD4 gene in a subset of both diseases. To the best of our knowledge, we present the first case in the radiologic literature on the MRI findings in a patient with this rare combined diagnosis undergoing workup for burden of disease. Read More

Ann Med Surg (Lond) 2018 Dec 16;36:199-202. Epub 2018 Nov 16.

Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Dr. Ignacio Morones Prieto O 3000, Monterrey, 64710, Mexico.

Introduction: Splenic hamartoma is a primary benign tumor of the spleen, with approximately 150 cases documented in the literature to date, with only a few cases associated with symptoms and hematologic disorders.

Presentation Of Case: A 49-year-old female with no past medical history, presented to the emergency department complaining of a three-month history of intermittent abdominal pain and 12 kg of weight loss. Physical examination revealed abdominal distension and a big palpable and painless mass on the left side of her abdomen measuring 14 cm. Read More

Transl Oncol 2018 Nov 29;12(2):361-367. Epub 2018 Nov 29.

Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands. Electronic address:

Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer. Read More

Semin Diagn Pathol 2018 Nov 17. Epub 2018 Nov 17.

Department of Pathology, Emory University Hospital, Atlanta, GA 30322, United States. Electronic address:

Developmental abnormalities and malformations of the breast are rare and encompass a variety of genetic, syndromic, acquired and sporadic conditions. Abnormalities in development may include irregularities in the nipple areolar complex and/or the underlying glandular tissue, resulting in under or overdevelopment of breasts. Age of presentation and clinical severity is dependent on the underlying biologic cause. Read More

Eur J Dermatol 2018 Dec 4. Epub 2018 Dec 4.

Oncology Unit.

Pediatr Dev Pathol 2018 Nov 29:1093526618806750. Epub 2018 Nov 29.

9 Department of Pediatric Surgery, Children's Hospital of Eastern Ontario and University of Ottawa Faculty of Medicine, Ottawa, Ontario, Canada.

Hepatic mesenchymal hamartoma is a rare benign neoplasm principally encountered in young children. Its origin is unknown. We report an unusual hepatic mesenchymal hamartoma in a 7-month-old girl, including histopathologic findings, immunophenotype, and karyotype. Read More

J Neurosurg Pediatr 2018 Oct 1:1-6. Epub 2018 Oct 1.

Hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. In this clinical report, the authors describe two brothers with a different familial syndrome. Read More

J Med Case Rep 2018 Nov 29;12(1):354. Epub 2018 Nov 29.

Department of Pediatrics, Rafic Hariri University Hospital, Bir-Hassan, Jinah, Beirut, Lebanon.

Background: Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus.

Case Presentation: In this case report, we describe the case of a 13-year-old Lebanese-Armenian boy born with Pallister-Hall syndrome showing newly associated manifestations (orofacial narrowing and tethered cord), and currently showing a spontaneous puberty with normal growth pattern following management with growth hormones.

Conclusions: This case report shows a practical approach to this very rare syndrome, mainly with testosterone and growth hormones, and its follow-up in the long term. Read More

Semin Diagn Pathol 2018 Nov 16. Epub 2018 Nov 16.

Joint Pathology Center, Silver Spring, MD, United States.

Actas Dermosifiliogr 2018 Nov 24. Epub 2018 Nov 24.

Servicio de Dermatología, Hospital Universitario La Paz, Madrid, España.

J Med Case Rep 2018 Nov 28;12(1):353. Epub 2018 Nov 28.

Institute of Cardiovascular Research, Royal Holloway, University of London, Egham, Surrey, TW20 0EX, UK.

Background: Cowden's syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old patient diagnosed with Cowden's syndrome and his family with PTEN mutations. The family has an unusually high number of offspring with autism spectrum disorder. Read More

World Neurosurg 2018 Nov 24. Epub 2018 Nov 24.

Department of Neurosurgery, Medical College of Wisconsin, Milwaukee, WI 53226; Department of Neurosurgery, Children's Hospital of Wisconsin, Milwaukee, WI 53226. Electronic address:

Background: Hypothalamic hamartomas (HHs) are non-neoplastic congenital malformations associated with refractory epilepsy and behavioral disorders. Improvement in behavioral functioning following resection of HHs has been reported. Stereotactic laser ablation (SLA), a minimally invasive technique, has been used for the treatment of HH-related epilepsy. Read More

Semin Diagn Pathol 2018 Nov 16. Epub 2018 Nov 16.

Departments of Pathology, Laboratory Medicine, and Neuroscience, 171 Ashley Avenue, MSC 908 Medical University of South Carolina, Charleston, SC 29425-9080, United States. Electronic address:

Hamartomas are an overgrowth of mature tissues that normally occur in an area of the body, but with disorganization and often with one element predominating. Choristomas on the other hand, are a mass of tissue histologically normal for a part of the body other than the one in which it is located (heterotopic/ectopic). Many reports use choristoma and heterotopia interchangeably. Read More

J Clin Psychol Med Settings 2018 Nov 23. Epub 2018 Nov 23.

Department of Pediatrics, Psychology Service, Baylor College of Medicine, Texas Children's Hospital, 6701 Fannin Street, CCC 1630, Houston, TX, 77030-2399, USA.

Most children with hypothalamic hamartoma (HH) manifest symptoms of epilepsy and associated cognitive deficits and behavioral difficulties as well as central precocious puberty (CPP). However, there is little to no research examining behavioral difficulties in children with HH without epilepsy, nor is there research examining treatments to address the behavioral difficulties of patients with HH without epilepsy. In the current case report, the authors implemented a validated parent management training program [the Brief Behavioral Intervention (BBI)], to treat symptoms of ADHD and disruptive behavior in a 6-year-old female patient with HH and CPP. Read More

J Fr Ophtalmol 2018 Dec 22;41(10):e477-e480. Epub 2018 Nov 22.

Department of ophthalmology, centre hospitalier intercommunal de Creteil, 40, avenue de Verdun, 94000 Creteil, France.

J Microsc Ultrastruct 2018 Oct-Dec;6(4):212-214

Department of Pathology, Faculty of Medicine, King Abdul Aziz University, Jeddah, Saudi Arabia.

Myeloid sarcoma (MS) of the breast is uncommon. We report this case of a 29-year-old female presented with a breast lump that was diagnosed as hamartoma by radiology. The lump was removed surgically. Read More

Am J Dermatopathol 2018 Nov 15. Epub 2018 Nov 15.

Section of Dermatology, Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.

Nevus comedonicus is a rare cutaneous follicular hamartoma, characterized by the clustering of papules with firm, blackened horny buffers. It is usually present at birth or during childhood, although few cases of late-onset disease have been described. We present a case of postmenopausal-onset nevus comedonicus in a 55-year-old white woman without relevant medical history. Read More

Am J Dermatopathol 2018 Nov 15. Epub 2018 Nov 15.

Deramatology, Hospital Universitario 12 de Octubre, Universidad Complutense, Instituto de Investigación I+12, Madrid, Spain.

Neurocristic cutaneous hamartomas (NCHs) are rarely reported tumors with divergent differentiation derived from persistently active pluripotent cells from the neural crest. They result from aberrant development of the neuromesenchyme, and they can express fibrogenic, melanocytic, and/or neurosustentacular differentiation. Thus, congenital melanocytic nevus also represents a neurocristic dysplasia of the skin in which cells are melanogenic cells arrested in development located in the reticular dermis, and nodular proliferative neurocristic hamartoma may arise within a congenital melanocytic nevus. Read More

Hum Genome Var 2018 12;5:31. Epub 2018 Nov 12.

1Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610 Singapore.

Pallister-Hall syndrome is a rare autosomal dominant condition that is associated with polydactyly and hypothalamic hamartoma and is caused predominantly by frameshift or nonsense pathogenic variants in the gene. The majority of cases are identified during childhood; however, rare reports of diagnoses during adulthood exist. Here, we describe the identification of a novel nonsense pathogenic variant in an adult male following the incidental detection of a hypothalamic hamartoma. Read More

J Pediatr Ophthalmol Strabismus 2018 Nov;55(6):412

Indian J Ophthalmol 2018 Dec;66(12):1866-1868

Smt. Kanuri Santhamma Centre for Vitreo-Retinal Diseases, L V Prasad Eye Institute, Hyderabad, Telangana, India.

Combined hamartoma of retina and retinal pigment epithelium (CHRRPE) has been considered as a congenital benign entity with evidence of choroidal neovascularization membranes (CNVM) being associated with it in literature. This case series gives insight into the pathogenesis and the predisposing factors leading to CNVM formation in peripapillary CHRRPE using swept-source optical coherence tomography. In addition, lack of typical markers of CNVM (subretinal fluid/pigment epithelial detachment) in CHRRPE highlights the utility of optical coherence tomography angiography and the subtle optical coherence tomography findings such as "Bridge Sign" that could be instrumental in early diagnosis of CNVM in CHRRPE. Read More

Surg Pathol Clin 2018 Dec 17;11(4):725-737. Epub 2018 Oct 17.

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:

A heightened understanding of hereditary renal cancer syndromes and their molecular basis has led to an increased awareness and recognition of these renal neoplasms by pathologists. Because a diagnosis of hereditary renal cell carcinoma has a profound impact on the patient and family members, when and how to raise such a suspicion via pathologic assessment has become an important yet very challenging task. This review discusses key clinicopathologic, immunohistochemical, and genetic characteristics of hereditary renal cancer syndromes, and important differential diagnostic challenges, emphasizing recent pathologic and molecular advances. Read More

J AAPOS 2018 Nov 14. Epub 2018 Nov 14.

Division of Ophthalmology, Warren Alpert Medical School, Brown University, Providence, Rhode Island.

We present the novel finding of retinal astrocytoma in a 15-year-old boy with phosphatase and tensin homologue hamartoma tumor syndrome, confirmed by genetic testing. Read More

J Indian Assoc Pediatr Surg 2018 Oct-Dec;23(4):219-221

Department of Pediatric Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Congenital nevi and fibrolipomatous hamartoma are benign tumors of childhood, the latter being very uncommon. Fibrous hamartoma of infancy typically occurs in <2 years of life. The concurrence of these two lesions is extremely rare. Read More

J Minim Access Surg 2018 Nov 9. Epub 2018 Nov 9.

Department of Surgery, Hospital Quironsalud San José, Madrid, Spain.

Retrorectal cystic hamartomas, or tailgut cysts, are complex congenital cystic lesions which arise from embryologic tissues. Fewer than 200 cases have been reported worldwide, with women outnumbering men by 3:1. They are asymptomatic in 50% of the cases; the remainder present with back pain or mass effect as the most common symptoms. Read More

Skinmed 2018 9;16(5):347-349. Epub 2018 Nov 9.

University of South Florida Morsani College of Medicine, FL.

A 27-year-old Hispanic man presented with multiple papules and nodules measuring up to 10 cm in diameter. These lesions were widespread (Figure 1), but not on mucosal epithelium. At birth, the patient had had multiple hypopigmented macules that had progressed to papules and nodules over time. Read More

Medicine (Baltimore) 2018 Nov;97(45):e13022

Department of Otolaryngology-Head and Neck Surgery, Chonnam National University Medical School & Chonnam National University Hwasun Hospital, Hwasun, South Korea.

Rationale: Seromucinous hamartoma is a rare benign glandular proliferation of the sinonasal tract and nasopharynx, and the majority of lesions occur on the posterior nasal septum.

Patient Concerns: The patient had complaints of rhinorrhea, sneezing, and itching for a number of years, and recurrent right nasal bleeding for which the patient underwent endoscopic removal of a right inferior turbinate tumor. The biopsy result was low-grade, non-intestinal type adenocarcinoma, and the patient was referred to our hospital. Read More

Case Rep Pathol 2018 14;2018:5971786. Epub 2018 Oct 14.

Department of Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

Hamartomas are considered a mixture of nonneoplastic tissue, which may be indigenous to a different location in the body. As such, they may be epithelial, mesenchymal, or mixed. In the sinonasal region, the following hamartomatous lesions are considered to lie on a spectrum and include respiratory epithelial adenomatoid hamartoma (REAH), chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH), and nasal chondromesenchymal hamartoma (NCMH). Read More

Int J Surg Case Rep 2018 Sep 17;53:140-143. Epub 2018 Sep 17.

Department of Surgery, University of Modena and Reggio Emilia, Policlinico of Modena, Via del Pozzo, 71 41100 Modena, Italy. Electronic address:

Introduction: To date, laparoscopic surgery has played a key role in the treatment of not only splenic hematologic pathologies but also solid ones. Hamartoma is a rare disease; only twenty percent of them are of pediatric relevance; it is a benign tumor, but radiological features never allow proper differentiation from malignant neoplasms. In children, hamartoma may be associated with other morbid conditions, such as sickle cell disease or other hematological alterations. Read More

Ophthalmic Surg Lasers Imaging Retina 2018 Oct;49(10):e147-e150

The authors present the multimodal imaging findings of an unusual case of bilateral acquired progressive myelination of the optic disc during a 10-year follow-up period in a hyperopic adolescent patient in the absence of an underlying ocular or systemic abnormality. Myelination of the left optic disc was noted at age 7 and of the right optic disc at age 13, but no other ocular or systemic abnormalities were identified. Cross-sectional optical coherence tomography (OCT) and en face OCT angiography confirmed the presence of myelination of the retinal nerve fiber layer and excluded other etiologic possibilities including an astrocytic hamartoma. Read More

Ophthalmic Surg Lasers Imaging Retina 2018 Oct;49(10):812-814

A 12-year-old male presented for evaluation of asymptomatic bilateral retinal tumors. Both eyes contained whitish-gray retinal tumors with intralesional calcifications. Enhanced depth optical coherence tomography and high-resolution (20 MHz) ultrasonography narrowed the differentiation diagnosis to astrocytic hamartoma versus retinocytoma. Read More

Lung India 2018 Nov-Dec;35(6):530-531

Department of Intervention and Diagnostic Radiology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Vet Clin Pathol 2018 Oct 31. Epub 2018 Oct 31.

Department of Veterinary Sciences, University of Turin, Grugliasco, Italy.

Background: Feline Mesenchymal Nasal Hamartoma (MNH) is a rare benign tumor-like lesion of the sinonasal tract affecting young cats.

Objectives: This study aimed to determine the diagnostic significance of osteoblast-like (OB-L) and osteoclast-like cells (OC-L) in squash preparation cytology from endoscopic biopsies.

Methods: A 5-year database was retrospectively reviewed and included 109 cases of which 24 were diagnosed as MNH by histopathology. Read More

Epilepsia 2018 Dec 30;59(12):2284-2295. Epub 2018 Oct 30.

Department of Pediatric Neurosurgery, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

Objective: The purpose of this study is to investigate the outcomes of epilepsy surgery targeting the subcentimeter-sized resting state functional magnetic resonance imaging (rs-fMRI) epileptogenic onset zone (EZ) in hypothalamic hamartoma (HH).

Methods: Fifty-one children with HH-related intractable epilepsy received anatomical MRI-guided stereotactic laser ablation (SLA) procedures. Fifteen of these children were control subjects (CS) not guided by rs-fMRI. Read More

Skeletal Radiol 2018 Oct 29. Epub 2018 Oct 29.

Department of Pediatric Surgery, Kyoto Prefectural University of Medicine, 465 Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.

We herein report a rare case of mesenchymal hamartoma of the chest wall in a 10-year-old girl. She complained of chest pain and was diagnosed with a large chest wall tumor originating from the left fourth rib. Malignancy such as osteosarcoma or chondrosarcoma could not be ruled out with imaging studies. Read More

Pan Afr Med J 2018 14;30:132. Epub 2018 Jun 14.

Service de Dermatologie-Vénérologie, Hôpital d'Instruction Mohammed V, Rabat, Maroc.

Sebaceous naevus (sebaceous hamartoma) is a congenital lesion mainly localized to the scalp, whose clinical and histologic diagnosis is generally easy. In the vast majority of cases, it is diagnosed at birth, but it can sometimes go unnoticed and give the impression to occur later. This lesion may be complicated by benign tumors or more rare malignancies. Read More

BMJ Case Rep 2018 Oct 25;2018. Epub 2018 Oct 25.

Department of Neonatology, KK Women's and Children's Hospital, Singapore, Singapore.

Umbilical cord anomalies are rare. The differential diagnosis for a cystic structure around the umbilical cord and its insertion include pseudocyst, omphalomesenteric duct cyst, haemangioma, omphalocele or anterior abdominal wall defects. Although cord anomalies can be detected through antenatal ultrasound scans (US), very often a definitive diagnosis cannot be made. Read More

J Comp Pathol 2018 Oct 22;164:44-47. Epub 2018 Sep 22.

Universität Bern, Centre for Fish and Wildlife Health-FIWI, Department of Infectious Diseases and Pathobiology, Länggassstrasse 122, Bern, Switzerland.

A 14-year-old red-ear slider turtle (Trachemys scripta elegans) with no history of pre-existing clinical disease died and was referred for necropsy examination. Grossly, oesophageal prolapse, bilateral renal cysts and a paraduodenal cystic mass were detected. Tissues were processed routinely for histology and immunohistochemistry (IHC) with primary antibodies specific for Wilm's tumour suppressor gene-1 (WT-1), insulin, glucagon and pancytokeratins. Read More

Australas J Dermatol 2018 Oct 24. Epub 2018 Oct 24.

Department of Dermatology, Venereology and Leprology, PGIMER, Chandigarh, India.

J Med Case Rep 2018 Oct 18;12(1):302. Epub 2018 Oct 18.

Department of Dermatology University Hospital Hassan II, Fez, Morocco.

Background: Glomus tumor is a benign and vascular hamartoma that originates from the neuromyoarterial cells of the normal glomus apparatus in the reticular dermis. The etiology of glomus tumors is unknown. It usually presents as a small, slightly raised, bluish or pinkish-red, painful nodule of the fingertips and the pulp. Read More

Int J Mol Sci 2018 Oct 16;19(10). Epub 2018 Oct 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000⁻1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding SET domain containing protein 1 () gene. Most of these alterations are deletions and common micro-deletions with haploinsufficiency. Read More

NMC Case Rep J 2018 Oct 13;5(4):83-85. Epub 2018 Sep 13.

Department of Neurosurgery, Jikei University School of Medicine, Tokyo, Japan.

We report the case of a patient with a spinal extradural arteriovenous fistula (AVF) associated with Cowden syndrome (CS) that was successfully treated by endovascular surgery. CS is an autosomal dominant disorder associated with diverse symptoms caused by a deleterious mutation in the phosphatase and tensin homolog () gene. A 67-year-old woman was diagnosed with CS based on her medical history of multiple cancers for which she underwent abdominal surgery, macrocephaly, Lhermitte-Duclos disease, and facial papules. Read More